Linked Data
dbSNP Id:
rs10489202
gnomAD v2:
1-167903079-G-T
gnomAD v3:
1-167933841-G-T
gnomAD v4:
1-167933841-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167933841G>T , CM000663.2:g.167933841G>T | GRCh38 |
| NC_000001.10:g.167903079G>T , CM000663.1:g.167903079G>T | GRCh37 |
| NC_000001.9:g.166169703G>T | NCBI36 |
| NG_053062.1:g.2603G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271373.9:c.109+1892C>A MANE Select | ENSP00000271373.4:n.109+1892C>A | |
| ENST00000271373.8:c.109+1892C>A | ENSP00000271373.4:n.109+1892C>A | |
| ENST00000367846.8:c.109+1892C>A | ENSP00000356820.4:n.109+1892C>A | |
| ENST00000458574.1:c.109+1892C>A | ENSP00000392874.1:n.109+1892C>A | |
| NM_001143674.3:c.109+1892C>A | NP_001137146.1:n.109+1892C>A | |
| NM_015415.3:c.109+1892C>A | NP_056230.1:n.109+1892C>A | |
| NR_026550.2:n.469+1892C>A | ||
| XM_006711266.2:c.109+1892C>A | XP_006711329.1:n.109+1892C>A | |
| XM_006711266.3:c.109+1892C>A | XP_006711329.1:n.109+1892C>A | |
| NM_001143674.4:c.109+1892C>A MANE Select | NP_001137146.1:n.109+1892C>A | |
| NR_026550.3:n.264+1892C>A |